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Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome
Abstract
X-linked Alport syndrome is a hereditary glomerulonephritis in which progressive loss of kidney function is often accompanied by progressive loss of hearing. Ultrastructural defects in glomerular basement membranes (GBM) of Alport syndrome patients implicate an altered structural protein as the cause of nephritis. The product of COL4A5, the α5(IV) collagen chain, is a specific component of GBM within the kidney, and the gene maps to the same X chromosomal region as does Alport syndrome. Three structural aberrations were found in COL4A5, an intragenic deletion, a Pst I site variant, and an uncharacterized abnormality, which appear to cause nephritis and deafness, with allele-specific severity, in three Alport syndrome kindreds in Utah.
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Cited by
Kestilä, M., Lenkkeri, U., Männikkö, M., Lamerdin, J., McCready, P., Putaala, H., Ruotsalainen, V., Morita, T., Nissinen, M., Herva, R., et al. (1998) · Molecular Cell · doi:10.1016/s1097-2765(00)80057-x · Cited by 1,866
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Karsdal, M. A., Nielsen, S. H., Leeming, D. J., Langholm, L. L., Nielsen, M. J., Manon-Jensen, T., Siebuhr, A., Gudmann, N. S., Rønnow, S., Sand, J. M., et al. (2017) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2017.07.014 · Cited by 509
Metadata
- Authors
- Barker, D. F., Hostikka, S. L., Zhou, J., Chow, L. T., Oliphant, A. R., Gerken, S. C., Gregory, M. C., Skolnick, M. H., Atkin, C. L., & Tryggvason, K.
- Venue
- Science
- Published
- 1990-06-08
- Volume
- 248
- Issue
- 4960
- Pages
- 1224-1227
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2029863361
- Cited by
- 876
- References
- 0
- FWCI
- 36.56
- Type
- journal article
- Language
- en
- Open access
- closed
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- Barker, D. F., Hostikka, S. L., Zhou, J., Chow, L. T., Oliphant, A. R., Gerken, S. C., Gregory, M. C., Skolnick, M. H., Atkin, C. L., & Tryggvason, K. (1990). Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome. Science. https://doi.org/10.1126/science.2349482
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